Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 123, Issue 4, Pages 1405-1412Publisher
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI61398
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Funding
- NIH [NS21328, NS070298, AG24373, DK73691]
- Simon Foundation [205844]
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The classical Mendelian genetic perspective has failed to adequately explain the biology and genetics of common metabolic and degenerative diseases. This is because these diseases are primarily systemic bioenergetic diseases, and the most important energy genes are located in the cytoplasmic mitochondrial DNA (mtDNA). Therefore, to understand these complex diseases, we must investigate their bioenergetic pathophysiology and consider the genetics of the thousands of copies of maternally inherited mtDNA, the more than 1,000 nuclear DNA (nDNA) bioenergetic genes, and the epigenomic and signal transduction systems that coordinate these dispersed elements of the mitochondrial genome.
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